The intellectual disability gene PQBP1 rescues Alzheimer’s disease pathology

HEXIM1 and NEAT1 Long Non-coding RNA Form a Multi-subunit Complex that Regulates DNA-Mediated Innate Immune Response

(2017) Mehdi Morchikh et al.   MOLECULAR CELL

Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia

(2016) L. Lange et al.   CLINICAL GENETICS

Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides

(2016) A. J. Hinrich et al.   EMBO Molecular Medicine

CCT complex restricts neuropathogenic protein aggregation via autophagy

(2016) Mariana Pavel et al.   Nature Communications

PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1

(2015) Sunnie M. Yoh et al.   CELL

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

(2015) P. Y. Billie Au et al.   HUMAN MUTATION

ScaleS: an optical clearing palette for biological imaging

(2015) Hiroshi Hama et al.   NATURE NEUROSCIENCE

Whole-Brain Imaging with Single-Cell Resolution Using Chemical Cocktails and Computational Analysis

(2014) Etsuo A. Susaki et al.   CELL

MAP2K1 (MEK1) Mutations Define a Distinct Subset of Lung Adenocarcinoma Associated with Smoking

(2014) M. E. Arcila et al.   CLINICAL CANCER RESEARCH

Comprehensive phosphoproteome analysis unravels the core signaling network that initiates the earliest synapse pathology in preclinical Alzheimer's disease brain

(2014) Kazuhiko Tagawa et al.   HUMAN MOLECULAR GENETICS

14-3-3 Proteins Are Required for Hippocampal Long-Term Potentiation and Associative Learning and Memory

(2014) H. Qiao et al.   JOURNAL OF NEUROSCIENCE

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

(2014) H Ito et al.   MOLECULAR PSYCHIATRY

Single App knock-in mouse models of Alzheimer's disease

(2014) Takashi Saito et al.   NATURE NEUROSCIENCE

PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

(2013) Q. Wang et al.   GENES & DEVELOPMENT

U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease

(2013) B. Bai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The XLID Protein PQBP1 and the GTPase Dynamin 2 Define a Signaling Link that Orchestrates Ciliary Morphogenesis in Postmitotic Neurons

(2013) Yoshiho Ikeuchi et al.   Cell Reports

Thinned-skull cranial window technique for long-term imaging of the cortex in live mice

(2010) Guang Yang et al.   Nature Protocols

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia

(2008) Masashi Ikeda et al.   HUMAN MOLECULAR GENETICS